Canonical Allele Identifier: CA579869931

Gene:

Linked Data

• dbSNP Id: rs1459724202
• gnomAD v2: 8-5764477-A-T
• gnomAD v3: 8-5906955-A-T
• gnomAD v4: 8-5906955-A-T
• MyVariant Identifiers: chr8:g.5764477A>T (hg19) ; chr8:g.5906955A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.5906955A>T , CM000670.2:g.5906955A>T	GRCh38
NC_000008.10:g.5764477A>T , CM000670.1:g.5764477A>T	GRCh37
NC_000008.9:g.5751885A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_941374.1:n.308-7224T>A
XR_941375.1:n.308-7224T>A
XR_941376.1:n.406-7224T>A
XR_941377.1:n.308-7224T>A
XR_941378.1:n.216-7224T>A
XR_001745765.1:n.308-7224T>A
XR_001745766.1:n.406-7224T>A
XR_001745767.1:n.216-7224T>A
XR_001745768.1:n.308-7224T>A
XR_941374.2:n.308-7224T>A
XR_941375.2:n.308-7224T>A